Neuro-oculo-cutaneous cavernous hemangiomas: a CCM1 mutation-associated phakomatosis.
Published
Journal Article
Evaluation for intracranial lesions in a patient with retinal cavernous hemangiomas is vital for early recognition of this heritable and potentially life-threatening disease. We report a case of a highly penetrant but variably expressed form of cerebral cavernous malformation syndrome with cerebral, cutaneous, and retinal cavernomas in a family found to harbor a nonsense mutation of the CCM1 gene.
Full Text
Duke Authors
Cited Authors
- Labowsky, MT; Walter, SD; McDonald, MT; Mruthyunjaya, P
Published Date
- October 2017
Published In
Volume / Issue
- 21 / 5
Start / End Page
- 426 - 429.e1
PubMed ID
- 28867399
Pubmed Central ID
- 28867399
Electronic International Standard Serial Number (EISSN)
- 1528-3933
Digital Object Identifier (DOI)
- 10.1016/j.jaapos.2017.06.012
Language
- eng
Conference Location
- United States